Variant report

Variant	esv33992
Chromosome Location	chr6:143957777-143966636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143958411..143960649-chr6:143968320..143970149,2	K562	blood:
2	chr6:143959369..143961139-chr6:144152997..144155782,2	K562	blood:
3	chr6:143959010..143961710-chr6:144384199..144386723,2	K562	blood:
4	chr6:143966000..143968139-chr6:143973368..143975325,2	MCF-7	breast:
5	chr6:143965764..143968046-chr6:144327940..144330274,2	K562	blood:

Variant related genes	Relation type
ENSG00000118495	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572230586	chr6:143957802-143957803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12211319	chr6:143957889-143957890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs12211324	chr6:143957903-143957904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148785641	chr6:143957940-143957941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540239031	chr6:143957944-143957945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143589326	chr6:143957956-143957957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114029567	chr6:143957971-143957972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560068504	chr6:143957981-143957982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532661017	chr6:143957991-143957992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185476829	chr6:143957994-143957995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559938236	chr6:143958043-143958044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529821495	chr6:143958044-143958045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192234045	chr6:143958079-143958080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146293383	chr6:143958092-143958093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62427373	chr6:143958135-143958136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373661656	chr6:143958167-143958168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551873138	chr6:143958201-143958202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570741901	chr6:143958241-143958242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534586426	chr6:143958250-143958251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150544889	chr6:143958286-143958287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552752911	chr6:143958295-143958296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567874303	chr6:143958317-143958318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571944416	chr6:143958339-143958340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189154973	chr6:143958358-143958359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377002176	chr6:143958394-143958395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540667855	chr6:143958427-143958428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563423532	chr6:143958454-143958455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560636414	chr6:143958475-143958476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368086066	chr6:143958476-143958477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139632118	chr6:143958481-143958482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574222421	chr6:143958483-143958484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543814661	chr6:143958505-143958506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144330955	chr6:143958510-143958511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191453884	chr6:143958610-143958611	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543585178	chr6:143958671-143958672	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12213073	chr6:143958688-143958689	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563747612	chr6:143958729-143958730	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577468061	chr6:143958823-143958824	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532317988	chr6:143958829-143958830	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369323033	chr6:143958931-143958932	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546069372	chr6:143958955-143958956	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562575705	chr6:143959004-143959005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575939783	chr6:143959010-143959011	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs151057168	chr6:143959011-143959012	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1890404	chr6:143959022-143959023	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140854807	chr6:143959023-143959024	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182887613	chr6:143959051-143959052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186988619	chr6:143959076-143959077	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552174252	chr6:143959081-143959082	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563881277	chr6:143959179-143959180	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143951200-143960200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:143954400-143958200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:143955800-143967200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:143956000-143958600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:143956000-143963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:143956000-143965000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:143956000-143967600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:143956000-143973800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:143956200-143958000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:143956200-143958600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:143956600-143960800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:143957800-143958200	Weak transcription	Right Atrium	heart
14	chr6:143958000-143958200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:143958000-143958400	Enhancers	Lung	lung
16	chr6:143958000-143958400	Enhancers	HUVEC	blood vessel
17	chr6:143958000-143959200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:143958200-143958600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:143958200-143959000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:143958200-143959200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr6:143958200-143959200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:143958200-143959200	Enhancers	Right Atrium	heart
23	chr6:143958600-143958800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:143958600-143958800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:143958600-143959000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr6:143958600-143959000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:143958600-143959000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:143958600-143959000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:143958600-143959000	Enhancers	Left Ventricle	heart
30	chr6:143958800-143960400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:143959000-143959200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr6:143959000-143965000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:143959000-143968800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:143959000-143978400	Weak transcription	Left Ventricle	heart
35	chr6:143959200-143964600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:143959200-143973800	Weak transcription	Right Atrium	heart
37	chr6:143960200-143961000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr6:143960400-143961400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:143960800-143961200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:143961000-143961400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr6:143961400-143961600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr6:143961400-143963400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:143961600-143969800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:143962000-143965000	Weak transcription	Primary T cells from cord blood	blood
45	chr6:143962600-143968600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:143963200-143964000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:143963400-143964600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:143964000-143974000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:143964600-143965400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:143964600-143969000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links